Document Detail


Cardiac involvement in hereditary-transthyretin related amyloidosis.
MedLine Citation:
PMID:  22494034     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Hereditary transthyretin-related amyloidosis remains a widely underdiagnosed condition, owing to its extreme phenotypic variability: the clinical spectrum of the disease ranges from an almost exclusive neurologic involvement to strictly cardiac manifestations. This heterogeneity is linked to several factors including specific transthyretin mutations, geographic distribution and endemic vs. non-endemic aggregation type. The existence of exclusively or predominantly cardiac phenotypes makes the recognition of the disease very challenging since it can mimic other more common causes of left ventricular "hypertrophy". Assessment of such patients should include an active search for possible red flags that can indicate the correct final diagnosis.
Authors:
Claudio Rapezzi; Simone Longhi; Agnese Milandri; Massimiliano Lorenzini; Christian Gagliardi; Ilaria Gallelli; Ornella Leone; Candida Cristina Quarta
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-4-12
Journal Detail:
Title:  Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis     Volume:  -     ISSN:  1744-2818     ISO Abbreviation:  -     Publication Date:  2012 Apr 
Date Detail:
Created Date:  2012-4-12     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9433802     Medline TA:  Amyloid     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Institute of Cardiology, University of Bologna and S.Orsola-Malpighi Hospital , Bologna , Italy.
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